Incidental Mutation 'R5695:Nyap1'
ID 443874
Institutional Source Beutler Lab
Gene Symbol Nyap1
Ensembl Gene ENSMUSG00000045348
Gene Name neuronal tyrosine-phosphorylated phosphoinositide 3-kinase adaptor 1
Synonyms 6430598A04Rik, Nyap1
MMRRC Submission 043326-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.143) question?
Stock # R5695 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 137729144-137739430 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 137733246 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 596 (A596T)
Ref Sequence ENSEMBL: ENSMUSP00000114694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061789] [ENSMUST00000118326] [ENSMUST00000149512] [ENSMUST00000212152]
AlphaFold Q6PFX7
Predicted Effect probably damaging
Transcript: ENSMUST00000061789
AA Change: A596T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000058217
Gene: ENSMUSG00000045348
AA Change: A596T

DomainStartEndE-ValueType
Pfam:NYAP_N 15 411 1.5e-127 PFAM
low complexity region 431 452 N/A INTRINSIC
Pfam:NYAP_C 528 833 1.7e-180 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118326
AA Change: A596T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000113397
Gene: ENSMUSG00000045348
AA Change: A596T

DomainStartEndE-ValueType
Pfam:NYAP_N 15 411 1.5e-127 PFAM
low complexity region 431 452 N/A INTRINSIC
Pfam:NYAP_C 528 833 1.7e-180 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000149512
AA Change: A596T

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000114694
Gene: ENSMUSG00000045348
AA Change: A596T

DomainStartEndE-ValueType
Pfam:NYAP_N 15 411 7.1e-128 PFAM
low complexity region 431 452 N/A INTRINSIC
Pfam:NYAP_C 528 771 1.9e-121 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000212152
AA Change: A596T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
Meta Mutation Damage Score 0.0620 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency 98% (58/59)
MGI Phenotype PHENOTYPE: Triple KO of Nyap1, Nyap2 and Myo16 results in decreased brain weight and cortex and striatum size and reduced neurite length in cortical neurons. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcd4 T A 12: 84,660,745 (GRCm39) H116L probably damaging Het
Anapc4 C T 5: 53,019,581 (GRCm39) S581L probably benign Het
Ano8 A C 8: 71,935,887 (GRCm39) D276E probably damaging Het
Aspm G A 1: 139,407,407 (GRCm39) R2098H probably benign Het
Bend7 G A 2: 4,768,052 (GRCm39) R336Q probably damaging Het
Bpifb4 G A 2: 153,784,843 (GRCm39) G184S probably damaging Het
Cbx8 T C 11: 118,930,137 (GRCm39) D152G probably benign Het
Cdca2 A G 14: 67,943,078 (GRCm39) probably null Het
Cgn G A 3: 94,680,945 (GRCm39) A531V probably benign Het
Cmya5 C A 13: 93,182,374 (GRCm39) probably null Het
Cntnap3 A G 13: 64,935,769 (GRCm39) S365P probably damaging Het
Crnn A G 3: 93,056,330 (GRCm39) Q372R probably damaging Het
Ehf T A 2: 103,097,124 (GRCm39) E276V probably damaging Het
Eif4g3 T A 4: 137,890,744 (GRCm39) probably null Het
Enpep C T 3: 129,102,748 (GRCm39) D403N probably damaging Het
Enpp1 T C 10: 24,530,806 (GRCm39) E550G probably damaging Het
Entpd8 A G 2: 24,974,346 (GRCm39) D377G probably benign Het
Epc2 T A 2: 49,437,619 (GRCm39) probably null Het
Erich3 G T 3: 154,439,210 (GRCm39) G481V probably damaging Het
Fank1 A G 7: 133,471,075 (GRCm39) Y156C probably damaging Het
Fras1 A G 5: 96,929,203 (GRCm39) D3869G probably damaging Het
Gcnt2 A G 13: 41,071,675 (GRCm39) D106G probably benign Het
Gm20830 A T Y: 6,916,501 (GRCm39) V206E probably benign Het
Gmpr2 T C 14: 55,914,691 (GRCm39) V228A possibly damaging Het
Gon4l TGAGCA TGAGCAGAGCA 3: 88,803,523 (GRCm39) probably null Het
Gtpbp1 G A 15: 79,596,375 (GRCm39) probably null Het
Hhat A T 1: 192,399,327 (GRCm39) M271K probably damaging Het
Hipk2 A T 6: 38,795,810 (GRCm39) M153K possibly damaging Het
Hydin A T 8: 111,261,915 (GRCm39) H2672L probably benign Het
Igfbpl1 A T 4: 45,826,374 (GRCm39) D140E probably damaging Het
Kctd1 T G 18: 15,196,573 (GRCm39) probably benign Het
Lax1 A T 1: 133,608,316 (GRCm39) Y142N probably damaging Het
Lpin2 C T 17: 71,551,798 (GRCm39) R733C probably damaging Het
Morn4 A G 19: 42,064,556 (GRCm39) L144P possibly damaging Het
Nup214 C A 2: 31,924,385 (GRCm39) T1638K probably damaging Het
Oas1d T C 5: 121,053,074 (GRCm39) M43T probably benign Het
Or4l15 T C 14: 50,198,080 (GRCm39) T150A probably benign Het
Or6x1 T C 9: 40,098,897 (GRCm39) V162A probably benign Het
Or8b42 A G 9: 38,342,472 (GRCm39) H298R probably benign Het
Pacs1 A G 19: 5,186,819 (GRCm39) F851S probably damaging Het
Pcdh17 A G 14: 84,683,800 (GRCm39) Q89R probably damaging Het
Phrf1 A G 7: 140,838,378 (GRCm39) probably benign Het
Plekhb1 A T 7: 100,304,602 (GRCm39) I34N probably damaging Het
Ralgapa2 T C 2: 146,175,397 (GRCm39) E1800G probably damaging Het
Rbm33 A T 5: 28,544,010 (GRCm39) I89F probably damaging Het
Rtl1 T A 12: 109,560,531 (GRCm39) E436V probably damaging Het
Slc2a4 G T 11: 69,837,217 (GRCm39) P73Q probably damaging Het
Sorbs2 A T 8: 46,245,912 (GRCm39) T311S probably benign Het
Sulf2 G A 2: 165,974,678 (GRCm39) A2V probably benign Het
Supt16 A T 14: 52,411,601 (GRCm39) probably null Het
Vmn1r26 A T 6: 57,985,738 (GRCm39) N150K probably damaging Het
Vmn2r39 T A 7: 9,028,150 (GRCm39) H407L possibly damaging Het
Vmn2r84 T A 10: 130,225,064 (GRCm39) Y482F probably benign Het
Vps9d1 T C 8: 123,973,655 (GRCm39) E376G probably benign Het
Wrn C A 8: 33,814,346 (GRCm39) G366V probably benign Het
Other mutations in Nyap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Nyap1 APN 5 137,736,346 (GRCm39) missense probably damaging 1.00
IGL02211:Nyap1 APN 5 137,737,937 (GRCm39) missense probably damaging 0.99
IGL02658:Nyap1 APN 5 137,733,746 (GRCm39) missense probably damaging 0.99
IGL03493:Nyap1 APN 5 137,733,278 (GRCm39) missense probably damaging 1.00
R0180:Nyap1 UTSW 5 137,736,283 (GRCm39) missense probably damaging 1.00
R0731:Nyap1 UTSW 5 137,733,560 (GRCm39) missense probably damaging 1.00
R1215:Nyap1 UTSW 5 137,733,395 (GRCm39) nonsense probably null
R1741:Nyap1 UTSW 5 137,731,387 (GRCm39) missense probably damaging 1.00
R1953:Nyap1 UTSW 5 137,733,294 (GRCm39) missense probably benign 0.01
R2006:Nyap1 UTSW 5 137,733,953 (GRCm39) missense possibly damaging 0.81
R2131:Nyap1 UTSW 5 137,731,943 (GRCm39) intron probably null
R2244:Nyap1 UTSW 5 137,733,576 (GRCm39) missense probably damaging 1.00
R4581:Nyap1 UTSW 5 137,734,284 (GRCm39) missense probably damaging 1.00
R4857:Nyap1 UTSW 5 137,733,840 (GRCm39) missense probably damaging 0.98
R5151:Nyap1 UTSW 5 137,734,376 (GRCm39) missense probably damaging 0.99
R5533:Nyap1 UTSW 5 137,733,726 (GRCm39) missense probably benign 0.15
R7201:Nyap1 UTSW 5 137,734,524 (GRCm39) missense probably damaging 1.00
R7210:Nyap1 UTSW 5 137,736,244 (GRCm39) missense probably damaging 1.00
R7374:Nyap1 UTSW 5 137,733,791 (GRCm39) missense probably damaging 1.00
R7434:Nyap1 UTSW 5 137,734,530 (GRCm39) missense probably damaging 1.00
R7658:Nyap1 UTSW 5 137,731,236 (GRCm39) missense probably benign
R7870:Nyap1 UTSW 5 137,733,658 (GRCm39) nonsense probably null
R7913:Nyap1 UTSW 5 137,733,231 (GRCm39) missense probably damaging 1.00
R8278:Nyap1 UTSW 5 137,730,077 (GRCm39) missense probably damaging 1.00
R8422:Nyap1 UTSW 5 137,734,083 (GRCm39) missense probably benign 0.01
R9145:Nyap1 UTSW 5 137,736,175 (GRCm39) missense probably benign
R9367:Nyap1 UTSW 5 137,734,248 (GRCm39) missense probably damaging 1.00
R9441:Nyap1 UTSW 5 137,733,194 (GRCm39) missense probably benign 0.02
R9568:Nyap1 UTSW 5 137,733,394 (GRCm39) nonsense probably null
R9680:Nyap1 UTSW 5 137,733,840 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TAGGCCTGTAGATTCTAAATATGCC -3'
(R):5'- AACTGGAGGTTCCCTGACTC -3'

Sequencing Primer
(F):5'- TTACTTGCCAAACCATTAGCAG -3'
(R):5'- GACTCCCCTCTGGACCTAC -3'
Posted On 2016-11-09